Institution
University of Antwerp
Education•Antwerp, Belgium•
About: University of Antwerp is a education organization based out in Antwerp, Belgium. It is known for research contribution in the topics: Population & Large Hadron Collider. The organization has 16682 authors who have published 48837 publications receiving 1689748 citations. The organization is also known as: Universiteit Antwerpen & UAntwerp.
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TL;DR: In this paper, the impact of increasing bunker costs on the design of liner services on the Europe-Far East trade is discussed, and the authors assess how shipping lines have adapted their liner service schedules (in terms of commercial speed, number of vessels deployed per loop, etc.).
404 citations
University of Washington1, Creighton University2, Central South University3, Huazhong University of Science and Technology4, Radboud University Nijmegen5, Karolinska Institutet6, Katholieke Universiteit Leuven7, Leiden University Medical Center8, South Australia Pathology9, University of Adelaide10, Boston Children's Hospital11, University of South Australia12, University of Antwerp13, University of California, San Diego14, University of California, Davis15, Florey Institute of Neuroscience and Mental Health16, University of Melbourne17, Howard Hughes Medical Institute18
TL;DR: Twenty-five genes showing a bias for autism versus intellectual disability and a network associated with high-functioning autism are highlighted, and clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
Abstract: Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867 controls. We identified 91 genes, including 38 new NDD genes, with an excess of de novo mutations or private disruptive mutations in 5.7% of cases. Drosophila functional assays revealed a subset with increased involvement in NDDs. We identified 25 genes showing a bias for autism versus intellectual disability and highlighted a network associated with high-functioning autism (full-scale IQ >100). Clinical follow-up for NAA15, KMT5B, and ASH1L highlighted new syndromic and nonsyndromic forms of disease.
404 citations
University of Antwerp1, University of California, Los Angeles2, Necker-Enfants Malades Hospital3, Great Ormond Street Hospital4, Charité5, Children's Medical Center of Dallas6, University of Otago7, University of Melbourne8, Children's Hospital at Westmead9, University of Lausanne10, Boston Children's Hospital11
TL;DR: This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes and remarkable, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders.
Abstract: The application of massively parallel sequencing technology to the field of skeletal disorders has boosted the discovery of the underlying genetic defect for many of these diseases. It has also resulted in the delineation of new clinical entities and the identification of genes and pathways that had not previously been associated with skeletal disorders. These rapid advances have prompted the Nosology Committee of the International Skeletal Dysplasia Society to revise and update the last (2015) version of the Nosology and Classification of Genetic Skeletal Disorders. This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes. Remarkably, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders. By providing a reference list of recognized entities and their causal genes, the Nosology should help clinicians achieve accurate diagnoses for their patients and help scientists advance research in skeletal biology.
403 citations
TL;DR: In this article, the authors identify an active role for arginine-rich domains in phase separations of ALS-linked stress granule proteins, and demonstrate that DPRs affect nucleocytoplasmic transport, leading to an important role for DPRs in the pathogenesis of C9orf72 ALS/FTLD.
403 citations
TL;DR: If proper weighting strategies are applied, the weighted linear least squares approach shows high performance characteristics in terms of accuracy/precision and may even be preferred over nonlinear estimation methods.
403 citations
Authors
Showing all 16957 results
| Name | H-index | Papers | Citations |
|---|---|---|---|
| Cornelia M. van Duijn | 183 | 1030 | 146009 |
| John Hardy | 177 | 1178 | 171694 |
| Mark Gerstein | 168 | 751 | 149578 |
| Hannes Jung | 159 | 2069 | 125069 |
| Rui Zhang | 151 | 2625 | 107917 |
| Dirk Inzé | 149 | 647 | 74468 |
| Walter Paulus | 149 | 809 | 86252 |
| Robin Erbacher | 138 | 1721 | 100252 |
| Rupert Leitner | 136 | 1201 | 90597 |
| Alison Goate | 136 | 721 | 85846 |
| Andrea Giammanco | 135 | 1362 | 98093 |
| Maria Spiropulu | 135 | 1455 | 96674 |
| Peter Robmann | 135 | 1438 | 97569 |
| Michael Tytgat | 134 | 1449 | 94133 |
| Matthew Herndon | 133 | 1732 | 97466 |